A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1417392



Internal ID16058630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20875005..20945443hg38UCSC Ensembl
Innerchr14:21343164..21413602hg19UCSC Ensembl
Innerchr14:20413004..20483442hg18UCSC Ensembl
Innerchr14:20413004..20483442hg17UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3870439
hg1970439
hg1870439
hg1770439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv817619
Supporting Variants
SamplesNA18949
Known GenesECRP, RNASE3
MethodSNP array
AnalysisAn integrated HMM algorithm was developed and we constructed accurate models for log R Ratio and B Allele Frequency. We developed more realistic models for state transition between different copy number states. PennCNV incorporates the population allele frequency for each SNP and the distance between adjacent SNPs. We incorporated a Bayesian approach into PennCNV to use family information for a posteriori CNV validation and CNV boundary mapping.
PlatformGPL6433
Comments
ReferenceWang_et_al_2007
Pubmed ID17921354
Accession Number(s)nssv1417392
Frequency
Sample Size112
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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